Neurodegenerace způsobená deficitem 3-hydroxyisobutyryl-CoA hydrolázy
ORPHA:88639· ICD-10 E71.1· Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy
ORPHA:88639· ICD-10 E71.1· Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency